Fibrillin-1

Let's get into it.

Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene on chromosome 15, which encodes fibrillin .

Fibrillin is a glycoprotein essential for the structural integrity of elastic fibers throughout the body, particularly in the aorta, eyes, and musculoskeletal system.

Approximately 25% of cases are de novo mutations with no family history.

Diagnosis is based on the revised Ghent criteria, which use a scoring system based on clinical features and family history.

The two cardinal features are aortic root dilatation and ectopia lentis.

Genetic testing for FBN1 mutations can support the diagnosis.

All patients require echocardiography to assess the aortic root and mitral valve.

A team of veterinary specialists and genetic researchers from Cornell University, Ghent University in Belgium, University of Pennsylvania, and also the Animal Medical Center studied these two cats.

And when they sequenced their DNA, they found a variant in a gene called FBN1, which is the same gene associated with Marfan syndrome in people.

The genetic findings showed that Gary and Shaggy just didn't look like they had Marfan syndrome.

They really did.

One, what is this genetic mutation of? We already talked about the fact that it's autosomal dominant, so it's a 50% chance of transmission with every pregnancy.

But the defect is chromosome 15, and this has to do with the fibrillin-1 molecule, okay? Fibrillin.

So the actual gene is FBN1.

FBN1, okay? That controls fibrillin-1.

That's an essential glycoprotein that helps com- maintain and, and justify the structural wellness of elastic fibers throughout the body and helps maintain normal extracellular matrix, okay? The short way of saying that is it is important for connective tissue to work.

So when this gene mutates, elastic fibers across multiple organ systems, especially, here it is, guys, blood vessels, the ligaments, and the eyes can become weak, they can become hyperflexible, and they're prone to structural failure.